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UMS
MCID: ULN003
MIFTS: 56

Ulnar-Mammary Syndrome (UMS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ulnar-Mammary Syndrome

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MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 57 12 20 58 73 36 29 13 54 6 44 15 71
Schinzel Syndrome 57 12 74 20 58
Ums 57 20 58 73
Pallister Ulnar-Mammary Syndrome 57 12 58
Ulnar-Mammary Syndrome of Pallister 20
Syndrome, Ulnar-Mammary 39

Characteristics:

Orphanet epidemiological data:

58
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ulnar-Mammary Syndrome

About this section
GARD : 20 Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance. Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present. The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ankyloglossia with or without tooth anomalies and tooth agenesis. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box Transcription Factor 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include breast, pituitary and uterus, and related phenotypes are abnormal fingernail morphology and abnormality of temperature regulation

Disease Ontology : 12 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has material basis in heterozygous mutation in the TBX3 gene.

OMIM® : 57 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450) (Updated 05-Mar-2021)

KEGG : 36 Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS.

UniProtKB/Swiss-Prot : 73 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia : 74 Ulnar-mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

Sources

Related Diseases for Ulnar-Mammary Syndrome

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Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 ankyloglossia with or without tooth anomalies 30.1 TBX22 TBX19 TBX1
2 tooth agenesis 28.9 TBX22 LEF1 FGF10 BMP4
3 heart septal defect 28.9 TBX5 TBX3 TBX20 TBX2 TBX18 TBX1
4 atrial heart septal defect 28.7 TBX5 TBX3 TBX20 TBX2 TBX18 TBX1
5 holt-oram syndrome 28.6 TBX5 TBX4 TBX3 TBX22 TBX20 TBX2
6 digeorge syndrome 28.1 TBX5 TBX3 TBX22 TBX20 TBX2 TBX10
7 cleft palate, isolated 28.1 TBX5 TBX22 TBX10 TBX1 LEF1 FGF10
8 ritscher-schinzel syndrome 1 11.7
9 ritscher-schinzel syndrome 2 11.7
10 ritscher-schinzel syndrome 3 11.5
11 ritscher-schinzel syndrome 11.4
12 acrocallosal syndrome 11.3
13 limb-mammary syndrome 11.2
14 vertebral anomalies and variable endocrine and t-cell dysfunction 10.3 TBX2 TBX1
15 hypoplastic left heart syndrome 1 10.2 TBX4 TBX20
16 chromosome 17q23.1-q23.2 deletion syndrome 10.2 TBX4 TBX2
17 interstitial emphysema 10.2 TBX6 TBX4
18 mayer-rokitansky-kuster-hauser syndrome 10.1 TBX5 TBX3
19 hypoplastic right heart syndrome 10.1 TBX5 TBX20 NKX2-5
20 dextro-looped transposition of the great arteries 10.1 TBX5 TBX1 NKX2-5
21 cryptorchidism, unilateral or bilateral 10.1
22 polydactyly 10.1
23 growth hormone deficiency 10.1
24 pulmonary valve disease 10.1 TBX5 TBX20 NKX2-5
25 tricuspid valve disease 10.1 TBX5 TBX20 NKX2-5
26 total anomalous pulmonary venous return 1 10.1 TBX5 NKX2-5
27 right atrial isomerism 10.1 TBX5 TBX20 NKX2-5
28 inguinal hernia 10.1 TBX3 TBX2 TBX1
29 atrial septal defect 2 10.1 TBX5 TBX20 NKX2-5
30 alagille syndrome 1 10.1 TBX5 TBX1 NKX2-5
31 interatrial communication 10.1 TBX5 TBX20 NKX2-5
32 hypertelorism 10.1
33 jacobsen syndrome 10.1 TBX5 TBX20 NKX2-5
34 exudative vitreoretinopathy 7 10.1 TBX5 TBX4 FGF10
35 thyroid malformation 10.1 TBX10 NKX2-5
36 pulmonary valve stenosis 10.0 TBX5 TBX20 TBX2 NKX2-5
37 tricuspid atresia 10.0 TBX5 TBX20 TBX1 NKX2-5
38 wolff-parkinson-white syndrome 10.0 TBX3 TBX20 TBX2 NKX2-5
39 ebstein anomaly 10.0 TBX5 TBX20 TBX1 NKX2-5
40 patent ductus arteriosus 1 10.0 TBX5 TBX20 TBX1 NKX2-5
41 charge syndrome 10.0 TBX5 TBX20 TBX1 NKX2-5
42 alacrima, achalasia, and mental retardation syndrome 10.0
43 hypotonia 10.0
44 sinoatrial node disease 10.0 TBX5 TBX3 TBX18 NKX2-5
45 hypogonadotropic hypogonadism 5 with or without anosmia 10.0 TBX5 NKX2-5
46 adult syndrome 10.0
47 breasts and/or nipples, aplasia or hypoplasia of, 1 10.0
48 cardiac arrhythmia 10.0
49 anus, imperforate 10.0
50 brachydactyly 10.0

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome
Sources

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

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Human phenotypes related to Ulnar-Mammary Syndrome:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
2 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
3 aplasia/hypoplasia of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0006495
4 absent axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002221
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
9 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
10 abnormality of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000130
11 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
12 hypoplastic nipples 58 31 frequent (33%) Frequent (79-30%) HP:0002557
13 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
14 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
15 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
16 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
17 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
18 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
19 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
20 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
21 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
22 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
23 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
24 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
25 abnormality of the metacarpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0001163
26 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
27 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
28 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
29 absent hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004050
30 aplasia of the pectoralis major muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0009751
31 breast aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100783
32 abnormality of the humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003063
33 abnormality of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0002818
34 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
35 abnormal clavicle morphology 31 occasional (7.5%) HP:0000889
36 inguinal hernia 31 HP:0000023
37 inverted nipples 31 HP:0003186
38 micropenis 31 HP:0000054
39 abnormality of the clavicle 58 Occasional (29-5%)
40 abnormality of finger 58 Very frequent (99-80%)
41 sparse lateral eyebrow 31 HP:0005338
42 hypoplasia of the ulna 31 HP:0003022
43 hypoplasia of the radius 31 HP:0002984
44 shawl scrotum 31 HP:0000049
45 hypoplastic scapulae 31 HP:0000882
46 short clavicles 31 HP:0000894
47 anal stenosis 31 HP:0002025
48 absent radius 31 HP:0003974
49 sparse axillary hair 31 HP:0002215
50 subglottic stenosis 31 HP:0001607

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen External Features:
inguinal hernia

Growth Weight:
obesity

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis
anal stenosis

Head And Neck Teeth:
hypodontia
ectopic upper canines

Skin Nails Hair Hair:
sparse axillary hair

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Genitourinary Internal Genitalia Female:
imperforate hymen

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Skeletal Feet:
short fourth and fifth toes

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Respiratory Larynx:
subglottic stenosis

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Growth Height:
delayed growth

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Clinical features from OMIM®:

181450 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
2 cardiovascular system MP:0005385 10.34 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX18
3 embryo MP:0005380 10.33 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
4 craniofacial MP:0005382 10.27 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
5 cellular MP:0005384 10.25 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
6 mortality/aging MP:0010768 10.25 BMP4 FGF10 LEF1 NKX2-5 RBM19 TBX1
7 digestive/alimentary MP:0005381 10.13 BMP4 FGF10 NKX2-5 TBX1 TBX10 TBX2
8 integument MP:0010771 10.1 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
9 limbs/digits/tail MP:0005371 10.07 BMP4 FGF10 LEF1 TBX1 TBX15 TBX2
10 nervous system MP:0003631 9.93 BMP4 FGF10 LEF1 NKX2-5 TBX1 TBX10
11 muscle MP:0005369 9.91 BMP4 FGF10 NKX2-5 TBX1 TBX15 TBX18
12 normal MP:0002873 9.7 BMP4 FGF10 NKX2-5 TBX1 TBX10 TBX2
13 skeleton MP:0005390 9.4 BMP4 FGF10 LEF1 TBX1 TBX15 TBX18
Sources

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Search Clinical Trials , NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Sources

Genetic Tests for Ulnar-Mammary Syndrome

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Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 29 TBX3
Sources

Anatomical Context for Ulnar-Mammary Syndrome

About this section

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

40
Breast, Pituitary, Uterus, Heart, Liver, Hypothalamus
Sources

Publications for Ulnar-Mammary Syndrome

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Articles related to Ulnar-Mammary Syndrome:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. 54 57 6 61
12668170 2002
2
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 61 6 57 54
9207801 1997
3
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. 6 57 61
28145909 2017
4
Ulnar Mammary syndrome and TBX3: expanding the phenotype. 6 57 61
19938096 2009
5
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. 57 6 61
12116211 2002
6
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. 57 54 61
16896345 2006
7
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. 54 57
16892408 2006
8
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. 61 57
8923944 1996
9
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. 61 57
8595424 1995
10
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. 57 61
1481852 1992
11
Ulnar-mammary syndrome. 61 57
3430557 1987
12
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. 61 57
3621662 1987
13
The Schinzel syndrome in a mother and daughter. 57 61
6538465 1984
14
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. 57 61
991870 1976
15
Laryngeal web, congenital heart disease and low stature. A syndrome? 57
7247825 1981
16
Transcription factor Tbx3 is required for the specification of the atrioventricular conduction system. 54 61
18467625 2008
17
Tbx3 is a downstream target of the Wnt/beta-catenin pathway and a critical mediator of beta-catenin survival functions in liver cancer. 54 61
17283120 2007
18
Isl1Cre reveals a common Bmp pathway in heart and limb development. 61 54
16556916 2006
19
TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. 61 54
15289316 2004
20
Interactions between FGF and Wnt signals and Tbx3 gene expression in mammary gland initiation in mouse embryos. 61 54
15255957 2004
21
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. 61 54
12668638 2003
22
T-box genes in human disorders. 61 54
12668595 2003
23
Regulation of Tbx3 expression by anteroposterior signalling in vertebrate limb development. 61 54
12376101 2002
24
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. 54 61
12005433 2002
25
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. 61 54
11689487 2001
26
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. 54 61
10468588 1999
27
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. 54 61
10330342 1999
28
Isolation of a Drosophila T-box gene closely related to human TBX1. 61 54
9611267 1998
29
[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report]. 61
33059814 2020
30
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2020
31
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
32
The roles and regulation of TBX3 in development and disease. 61
31669645 2020
33
Ritscher-Schinzel Syndrome 61
31971710 2020
34
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome. 61
30654152 2020
35
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. 61
30550377 2018
36
Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit. 61
30292786 2018
37
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation. 61
29963074 2018
38
The T-Box transcription factor 3 in development and cancer. 61
28579578 2017
39
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61
28555453 2017
40
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. 61
27491074 2016
41
Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes. 61
27722056 2016
42
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
24916641 2015
43
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. 61
25712599 2015
44
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. 61
25434475 2015
45
The T-Box factor TBX3 is important in S-phase and is regulated by c-Myc and cyclin A-CDK2. 61
26266831 2015
46
Short communication: Expression of T-box 2 and 3 in the bovine mammary gland. 61
24767885 2014
47
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. 61
24664963 2014
48
Ulnar mammary syndrome. 61
24679913 2014
49
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. 61
24675841 2014
50
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. 61
25328580 2014
Sources

Variations for Ulnar-Mammary Syndrome

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ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6 (show top 50) (show all 133)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX3 NM_005996.4(TBX3):c.227del (p.Ile76fs) Deletion Pathogenic 7987 rs1592851924 12:115120779-115120779 12:114682974-114682974
2 TBX3 NM_005996.4(TBX3):c.657+1G>C SNV Pathogenic 7988 rs1592851007 12:115118683-115118683 12:114680878-114680878
3 TBX3 NM_005996.4(TBX3):c.817A>T (p.Lys273Ter) SNV Pathogenic 7989 rs104894376 12:115115449-115115449 12:114677644-114677644
4 TBX3 NM_005996.4(TBX3):c.88dup (p.Met30fs) Duplication Pathogenic 7990 rs1592852070 12:115120917-115120918 12:114683112-114683113
5 TBX3 NM_005996.4(TBX3):c.991C>T (p.Gln331Ter) SNV Pathogenic 31909 rs397514484 12:115114166-115114166 12:114676361-114676361
6 TBX3 NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter) SNV Pathogenic 417720 rs1060505020 12:115112257-115112257 12:114674452-114674452
7 TBX3 NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs) Duplication Pathogenic 591004 rs1565858163 12:115109896-115109897 12:114672091-114672092
8 TBX3 NM_005996.4(TBX3):c.1039+1G>A SNV Likely pathogenic 849016 12:115114117-115114117 12:114676312-114676312
9 TBX3 NM_005996.4(TBX3):c.-895_-894TC[14] Microsatellite Conflicting interpretations of pathogenicity 307401 rs57078153 12:115121876-115121877 12:114684071-114684072
10 TBX3 NM_005996.4(TBX3):c.*1382G>C SNV Uncertain significance 307326 rs886049003 12:115108264-115108264 12:114670459-114670459
11 TBX3 NM_005996.4(TBX3):c.-209G>A SNV Uncertain significance 307385 rs774475860 12:115121214-115121214 12:114683409-114683409
12 TBX3 NM_005996.4(TBX3):c.390-9G>A SNV Uncertain significance 307375 rs753151479 12:115118960-115118960 12:114681155-114681155
13 TBX3 NM_005996.4(TBX3):c.-378T>A SNV Uncertain significance 307391 rs886049017 12:115121383-115121383 12:114683578-114683578
14 TBX3 NM_005996.4(TBX3):c.-441C>G SNV Uncertain significance 307394 rs752801993 12:115121446-115121446 12:114683641-114683641
15 TBX3 NM_005996.4(TBX3):c.-568T>A SNV Uncertain significance 307397 rs557484451 12:115121573-115121573 12:114683768-114683768
16 TBX3 NM_005996.4(TBX3):c.-71A>G SNV Uncertain significance 307380 rs886049012 12:115121076-115121076 12:114683271-114683271
17 TBX3 NM_005996.4(TBX3):c.*1539del Deletion Uncertain significance 307324 rs886049002 12:115108107-115108107 12:114670302-114670302
18 TBX3 NM_005996.4(TBX3):c.-895_-894TC[18] Microsatellite Uncertain significance 307403 rs57078153 12:115121876-115121877 12:114684071-114684072
19 TBX3 NM_005996.4(TBX3):c.-873_-872insTT Insertion Uncertain significance 307406 rs886049021 12:115121877-115121878 12:114684072-114684073
20 TBX3 NM_005996.4(TBX3):c.*15C>G SNV Uncertain significance 307350 rs886049008 12:115109631-115109631 12:114671826-114671826
21 TBX3 NM_005996.4(TBX3):c.-910C>G SNV Uncertain significance 307408 rs886049022 12:115121915-115121915 12:114684110-114684110
22 TBX3 NM_005996.4(TBX3):c.*1181G>A SNV Uncertain significance 307333 rs886049004 12:115108465-115108465 12:114670660-114670660
23 TBX3 NM_005996.4(TBX3):c.-392A>G SNV Uncertain significance 307392 rs886049018 12:115121397-115121397 12:114683592-114683592
24 TBX3 NM_005996.4(TBX3):c.-275A>G SNV Uncertain significance 307387 rs886049015 12:115121280-115121280 12:114683475-114683475
25 TBX3 NM_005996.4(TBX3):c.-872_-871insTCCCTC Insertion Uncertain significance 307404 rs112192237 12:115121876-115121877 12:114684071-114684072
26 TBX3 NM_005996.4(TBX3):c.-895_-894TC[15] Microsatellite Uncertain significance 307407 rs57078153 12:115121876-115121877 12:114684071-114684072
27 TBX3 NM_005996.4(TBX3):c.-181del Deletion Uncertain significance 307381 rs886049013 12:115121186-115121186 12:114683381-114683381
28 TBX3 NM_005996.4(TBX3):c.2004G>A (p.Ser668=) SNV Uncertain significance 307354 rs139599654 12:115109814-115109814 12:114672009-114672009
29 TBX3 NM_005996.4(TBX3):c.*715C>G SNV Uncertain significance 307337 rs886049005 12:115108931-115108931 12:114671126-114671126
30 TBX3 NM_005996.4(TBX3):c.-517_-514del Deletion Uncertain significance 307396 rs886049019 12:115121519-115121522 12:114683714-114683717
31 TBX3 NM_005996.4(TBX3):c.*14A>G SNV Uncertain significance 307351 rs886049009 12:115109632-115109632 12:114671827-114671827
32 TBX3 NM_005996.4(TBX3):c.-895_-894TC[17] Microsatellite Uncertain significance 307402 rs57078153 12:115121876-115121877 12:114684071-114684072
33 TBX3 NM_005996.4(TBX3):c.1695C>A (p.His565Gln) SNV Uncertain significance 307359 rs528110988 12:115111985-115111985 12:114674180-114674180
34 TBX3 NM_005996.4(TBX3):c.263G>A (p.Arg88Lys) SNV Uncertain significance 307377 rs886049011 12:115120743-115120743 12:114682938-114682938
35 TBX3 NM_005996.4(TBX3):c.-183C>T SNV Uncertain significance 307382 rs886049014 12:115121188-115121188 12:114683383-114683383
36 TBX3 NM_005996.4(TBX3):c.*400_*403del Deletion Uncertain significance 307343 rs886049007 12:115109243-115109246 12:114671438-114671441
37 TBX3 NM_005996.4(TBX3):c.*471T>G SNV Uncertain significance 307340 rs746896090 12:115109175-115109175 12:114671370-114671370
38 TBX3 NM_005996.4(TBX3):c.-895_-894TC[11] Microsatellite Uncertain significance 307405 rs57078153 12:115121877-115121878 12:114684072-114684073
39 TBX3 NM_005996.4(TBX3):c.-326G>T SNV Uncertain significance 307388 rs886049016 12:115121331-115121331 12:114683526-114683526
40 TBX3 NM_005996.4(TBX3):c.*1187G>A SNV Uncertain significance 307332 rs544887892 12:115108459-115108459 12:114670654-114670654
41 TBX3 NM_005996.4(TBX3):c.1477T>G (p.Phe493Val) SNV Uncertain significance 931444 12:115112203-115112203 12:114674398-114674398
42 TBX3 NM_005996.4(TBX3):c.1624G>A (p.Ala542Thr) SNV Uncertain significance 944182 12:115112056-115112056 12:114674251-114674251
43 TBX3 NM_005996.4(TBX3):c.1710+5G>A SNV Uncertain significance 966419 12:115111965-115111965 12:114674160-114674160
44 TBX3 NM_005996.4(TBX3):c.-937A>G SNV Uncertain significance 881960 12:115121942-115121942 12:114684137-114684137
45 TBX3 NM_005996.4(TBX3):c.*1074A>G SNV Uncertain significance 882930 12:115108572-115108572 12:114670767-114670767
46 TBX3 NM_005996.4(TBX3):c.*890A>G SNV Uncertain significance 882931 12:115108756-115108756 12:114670951-114670951
47 TBX3 NM_005996.4(TBX3):c.*795A>G SNV Uncertain significance 882932 12:115108851-115108851 12:114671046-114671046
48 TBX3 NM_005996.4(TBX3):c.21T>G (p.Asp7Glu) SNV Uncertain significance 883061 12:115120985-115120985 12:114683180-114683180
49 TBX3 NM_005996.4(TBX3):c.-102C>G SNV Uncertain significance 883062 12:115121107-115121107 12:114683302-114683302
50 TBX3 NM_005996.4(TBX3):c.-147G>A SNV Uncertain significance 883063 12:115121152-115121152 12:114683347-114683347

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

Sources

Expression for Ulnar-Mammary Syndrome

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Search GEO for disease gene expression data for Ulnar-Mammary Syndrome.
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Pathways for Ulnar-Mammary Syndrome

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Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 12.2 TBX6 TBX3 TBX1 LEF1 BMP4
2
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.11 TBX5 NKX2-5 LEF1 BMP4
3
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.54 TBX5 NKX2-5 FGF10 BMP4
4
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.48 TBX6 TBX5 NKX2-5 FGF10 BMP4
5
Cardiac Progenitor Differentiation 1
11.18 TBX5 TBX20 NKX2-5 BMP4
6
Heart Development 1
10.83 TBX5 TBX20 TBX2 TBX1 NKX2-5 FGF10
7
Cardiomyocyte Differentiation through BMP Receptors 63
10.75 NKX2-5 BMP4
Sources

GO Terms for Ulnar-Mammary Syndrome

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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
2 chromatin GO:0000785 9.5 VRTN TBX6 TBX5 TBX4 TBX3 TBX22
3 protein-DNA complex GO:0032993 9.43 TBX5 NKX2-5 LEF1
4 RNA polymerase II transcription repressor complex GO:0090571 9.16 TBX18 TBX15

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 TBX6 TBX5 TBX20 TBX19 TBX1 NKX2-5
2 positive regulation of transcription, DNA-templated GO:0045893 10.14 TBX5 TBX3 TBX20 TBX1 NKX2-5 LEF1
3 negative regulation of transcription, DNA-templated GO:0045892 10.13 TBX3 TBX22 TBX20 TBX2 NKX2-5 LEF1
4 positive regulation of cell proliferation GO:0008284 10.13 TBX6 TBX3 TBX2 TBX1 NKX2-5 LEF1
5 negative regulation of transcription by RNA polymerase II GO:0000122 10.13 TBX6 TBX3 TBX22 TBX20 TBX2 TBX18
6 multicellular organism development GO:0007275 10.1 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
7 angiogenesis GO:0001525 10 TBX4 TBX1 FGF10 BMP4
8 heart development GO:0007507 10 TBX5 TBX1 NKX2-5 BMP4
9 regulation of transcription, DNA-templated GO:0006355 10 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
10 anatomical structure morphogenesis GO:0009653 9.9 TBX6 TBX19 TBX10
11 lung development GO:0030324 9.89 TBX5 TBX4 FGF10 BMP4
12 heart morphogenesis GO:0003007 9.88 TBX3 TBX2 TBX19 TBX1 NKX2-5
13 odontogenesis of dentin-containing tooth GO:0042475 9.87 TBX1 LEF1 FGF10 BMP4
14 positive regulation of epithelial cell proliferation GO:0050679 9.86 TBX1 FGF10 BMP4
15 blood vessel development GO:0001568 9.86 TBX3 TBX1 BMP4
16 embryonic limb morphogenesis GO:0030326 9.86 TBX5 TBX4 LEF1 BMP4
17 embryonic digit morphogenesis GO:0042733 9.85 TBX3 TBX2 BMP4
18 outflow tract morphogenesis GO:0003151 9.85 TBX3 TBX20 TBX2 TBX1 BMP4
19 heart looping GO:0001947 9.85 TBX6 TBX3 TBX22 TBX20 TBX2 NKX2-5
20 somitogenesis GO:0001756 9.84 TBX19 TBX18 LEF1
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 TBX5 TBX20 TBX2
22 regulation of transcription by RNA polymerase II GO:0006357 9.83 VRTN TBX6 TBX5 TBX4 TBX3 TBX22
23 embryonic cranial skeleton morphogenesis GO:0048701 9.82 TBX15 TBX1 BMP4
24 mesoderm formation GO:0001707 9.81 TBX6 TBX19 BMP4
25 aortic valve morphogenesis GO:0003180 9.81 TBX20 NKX2-5 BMP4
26 cardiac muscle cell differentiation GO:0055007 9.81 TBX5 TBX3 NKX2-5 BMP4
27 pituitary gland development GO:0021983 9.8 TBX19 FGF10 BMP4
28 embryonic hindlimb morphogenesis GO:0035116 9.8 TBX4 TBX3 BMP4
29 embryonic heart tube development GO:0035050 9.8 TBX3 TBX20 TBX2 NKX2-5
30 outflow tract septum morphogenesis GO:0003148 9.8 TBX20 TBX2 TBX1 NKX2-5 BMP4
31 limb morphogenesis GO:0035108 9.78 TBX4 TBX3 FGF10
32 thyroid gland development GO:0030878 9.77 TBX1 NKX2-5 FGF10
33 atrial septum morphogenesis GO:0060413 9.75 TBX5 TBX20 NKX2-5
34 cellular senescence GO:0090398 9.73 TBX3 TBX2
35 cochlea morphogenesis GO:0090103 9.73 TBX18 TBX1
36 negative regulation of myoblast differentiation GO:0045662 9.73 TBX3 BMP4
37 steroid hormone mediated signaling pathway GO:0043401 9.73 LEF1 BMP4
38 morphogenesis of an epithelium GO:0002009 9.72 TBX5 TBX4
39 lung morphogenesis GO:0060425 9.72 FGF10 BMP4
40 epithelial tube branching involved in lung morphogenesis GO:0060441 9.72 FGF10 BMP4
41 pharyngeal system development GO:0060037 9.72 TBX1 NKX2-5
42 endocardial cushion morphogenesis GO:0003203 9.71 TBX20 TBX2
43 aorta morphogenesis GO:0035909 9.71 TBX2 TBX1
44 cardiac septum development GO:0003279 9.71 TBX20 BMP4
45 cardiac right ventricle morphogenesis GO:0003215 9.71 TBX20 BMP4
46 mesonephros development GO:0001823 9.71 FGF10 BMP4
47 cardiac muscle tissue morphogenesis GO:0055008 9.7 TBX20 NKX2-5
48 endocardial cushion development GO:0003197 9.7 TBX5 BMP4
49 forelimb morphogenesis GO:0035136 9.69 TBX5 TBX3
50 organ induction GO:0001759 9.69 FGF10 BMP4

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 VRTN TBX6 TBX5 TBX4 TBX3 TBX22
2 sequence-specific double-stranded DNA binding GO:1990837 10.02 TBX6 TBX3 TBX20 TBX2 TBX19 TBX18
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
4 sequence-specific DNA binding GO:0043565 9.91 VRTN TBX5 TBX3 TBX2 TBX1 NKX2-5
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.85 TBX5 TBX20 TBX19 NKX2-5 LEF1
6 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.8 TBX3 TBX2 TBX18 TBX15
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
8 transcription regulatory region sequence-specific DNA binding GO:0000976 9.78 TBX18 TBX15 NKX2-5 LEF1
9 RNA polymerase II transcription factor binding GO:0001085 9.61 TBX6 TBX3 TBX20
10 RNA polymerase II activating transcription factor binding GO:0001102 9.58 TBX6 TBX3 TBX20
11 DNA-binding transcription factor activity GO:0003700 9.47 TBX6 TBX5 TBX4 TBX3 TBX22 TBX20
Sources

Sources for Ulnar-Mammary Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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